Is ALDOB p.Ala308Val (c.923C>T) pathogenic?

ALDOB p.Ala308Val (c.923C>T) is classified Uncertain significance in ALDOB (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-06). AlphaMissense: ambiguous (0.3666); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with ALDOB p.Ala308Val (c.923C>T)?

ALDOB p.Ala308Val (c.923C>T) is associated with Inborn genetic diseases (ClinVar).

How common is ALDOB p.Ala308Val (c.923C>T) in the general population?

ALDOB p.Ala308Val (c.923C>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ALDOB p.Ala308Val (c.923C>T)?

AlphaMissense predicts ambiguous (score 0.3666) — an in-silico prediction, not a clinical call.

ALDOB p.Ala308Val

c.923C>T · rs748901188 · VCV2494239

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3666 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

REVEL, SaProt · AlphaMissense no call

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.3666	ambiguous
REVEL	0.647	pathogenic-leaning
SaProt	LLR -6.81	tolerated
⇒ REVEL calls this damaging; SaProt does not; AlphaMissense makes no call.
Splicing
SpliceAI	Δ0.44	donor gain · deltas
Pangolin	Δ0.28	gain · loss 0.00 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 12	GERP 2.9, phastCons 1
Regional constraint	o/e 1.16	unconstrained · MANE · 9,075 bp · p 0.00067 · regional, not allelic
Overall
CADD	34.0	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ALDOB
Protein: p.Ala308Val
Coding: c.923C>T
MANE Select: NM_000035
dbSNP: rs748901188
Type: single nucleotide variant
Location: chr9:101424919 (GRCh38)
Gene constraint: LOEUF 1.183 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 96.12 · 4 PDB
Residue 308: an α-helix

Full ALDOB gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ALDOB p.Tyr85Ter Pathogenic ★★ same condition
ALDOB p.Ala114Val Uncertain significance ★★ ⚠ same condition
ALDOB p.Ala256Ser Uncertain significance ★★ ⚠ same condition
ALDOB p.Arg56Cys Uncertain significance ★★ ⚠ same condition
ALDOB p.Arg60Gln Uncertain significance ★★ ⚠ same condition
ALDOB p.Asn285His Uncertain significance ★★ ⚠ same condition
ALDOB p.Gly112Arg Uncertain significance ★★ ⚠ same condition
ALDOB p.Gly118Arg Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/aldob-p-ala308val (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown